What we’ve discovered

Peta Rasdien and Marnie McKimmieThe West Australian

Wednesday, 28 June 2017 9:53AM

Camera IconWA researchers lead the way.Picture: Getty Images

We know more about keeping our bodies healthy and helping our children start their lives well than we did 18 years ago, when Health+Medicine began. Here are some of the huge advances which have been helped along by WA researchers at Harry Perkins Institute of Medical Research and Telethon Kids Institute.

Harry Perkins Institute of Medical Research

1. Discovery of SLIRP gene — a regulator of hormone action in breast and prostate cancer. It has since been determined that the gene also impacts on male fertility. Its role in colon and prostate cancer continues to be investigated.

2. mRNA to control cancer cell growth —identification of microRNA-7, a powerful inhibitor of cancer cell growth, specifically in liver, brain, head and neck and melanoma now being investigated as a novel cancer treatment.

3. 40 genes for Type 1 Diabetes — more than 40 genetic variants that affect the risk of someone developing type 1 diabetes were identified in work with an international collaboration. The team went on to show that most of these variants worked by controlling the expression of many other genes.

4. World’s most powerful genetic resource — the “Collaborative Cross” genetic resource enables rapid identification of genes for complex traits and has established many new models for human diseases. It has helped in diseases, including melanoma, mesothelioma, diabetes, dementia and heart disease.

5. Switching genes on and off —thedesign of artificial proteins that can be targeted to control any gene of interest. These proteins are being used to understand how cancer grows and are being developed as new cancer treatments.

6. World’s first 3-D printed finger- mounted optical imaging probe — a “smart surgical glove” which has a probe that can measure tissue stiffness at a microscopic level using high-resolution imaging, allowing surgeons to detect cancer cells that are too small to see or feel.

7. Blood vessel normalisation in cancer —highly chaotic cancer blood vessels act as a barrier protecting tumours from immune cells but can be made more “normal”, which helps the body’s own immune cells to fight cancer. This is particularly important for immunotherapy treatment.

8. Recessive gene mutation a cause of sudden infant death — recessive mutations in PPA2 identified as one cause of cardiac sudden death.

9. Gout medicine to prevent heart attacks — Colchicine, a drug used to treat gout, is in clinical trials to investigate whether it can prevent heart attacks.

10. Mutations in the skeletal muscle actin gene ACTA1 —found to cause one in four cases of nemaline myopathy worldwide and most of the severe cases. Since 1999, families all over the world have been able to avoid further affected children.

11. Link between gene regulator RGS5 and hypertension —identifying this link led to insights into pregnant women with high blood pressure. RGS5 is now being investigated for its potential to shrink blood vessels around tumours to starve cancers.

12. New treatment targeting chronic kidney disease —based on technology developed by Perkins researchers, this could control protein leakage (proteinuria) from the kidneys — a major symptom of chronic kidney disease.

13. Gene mutation responsible for Laing distal myopathy —mutation in the gene MYH7 found to cause the condition that affects skeletal muscles.

14. Improved diagnosis for antibiotic resistant infections —pioneered a faster method for finding the best antibiotic to treat an infection, a breakthrough with the potential to save lives and preserve the usefulness of antibiotics.

15. Genes for energy —discovery of genes required for our bodies to produce the energy they need. Understanding how these genes work has given new insights into how energy production can fail in metabolic diseases, diabetes and cancer.

16. Better ways to fight aggressive breast cancers —involves the use of nano particles to deliver anti-cancer agents directly to a tumour.

17. The process of vertebrate development — groundbreaking work that uncovered molecular instructions that provide important information required for the formation of embryonic body structures, such as limbs or the nervous system.

18.Twitter for cells —the first map of cell-to-cell communication between the hundreds of cell types. Being used to answer questions about how cancer cells avoid the immune system and recruit a blood supply and could help identify new therapeutic targets.

2. Autism —Diagnosis and therapy techniques for children under two with autism and policy changes for early diagnosis, treatment and understanding of causes.

3. Sunlight —First in the world to demonstrate in pre-clinical trials that doses of ultraviolet light, as found in sunlight, can reduce many of the characteristics of asthma. Also demonstrated the important role of sun exposure and vitamin D during pregnancy for development of the lungs, brain and bones of a child.

4. Cystic fibrosis —Added decades to life expectancy by spearheading intensive treatment earlier in the disease.

5. Fetal alcohol spectrum disorder —Led the development of national guidelines for diagnosis and management. Worked with Aboriginal leaders to dramatically reduce rates of drinking in pregnancy in the Fitzroy Valley and led groundbreaking projects focused on prevention, care and advocacy.

7. Rheumatic heart disease —Developed a strategy to eliminate this significant health problem and made inroads towards a vaccine.

8. Hib —Produced evidence that led to earlier immunisation for Haemophilus influenzae type B (Hib), leading to a reduction in the impact of Hib disease.

9. Whooping cough —Toddlers now get an additional whooping cough vaccine to protect them against this potentially deadly disease.

10. Youth mental health —National survey of child and adolescent mental health and wellbeing led to focus on prevention, less stigma and new services.

11. Bullying —Globally-recognised research that resulted in changes to prevention and management, state and federal policies and practices in schools.

12. Leukaemia —Collaborated in global clinical and translational research that has improved survival rates for childhood cancers.

13. Cerebral palsy —Developed the first register in Australia which changed thinking on what causes CP, with only a small number caused by trauma and lack of oxygen and most linked to earlier in pregnancy.

14. Looking at Language —Internationally unique, multi-disciplinary study, which follows the language development of more than 2000 children.

15. WA Aboriginal Child Health Survey —Most comprehensive undertaken and the first to show the Stolen Generation had an impact on the next generation.

16. Diabetes —Helped develop and test emerging diabetes technologies and made discoveries into the impact of sleep and different foods and exercise.

17. Data linkage —Created a unique de-identified data resource that links data across government service sectors for use by researchers and policy makers.

18. Rett syndrome — Australian population-based longitudinal study group and international database for this rare, incurable genetic disorder.